Thalassemias
Mostrando 1-12 de 21 artigos, teses e dissertações.
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1. Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromos
Genet. Mol. Biol.. Publicado em: 02/10/2017
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2. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis
This review discusses hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, one of the most common hemoglobin variants worldwide. It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267) prevalent in the Punjab region, North-western Indian. Hemoglobin D-Punjab can be inherited in heterozygosis with hemoglobin A causing n
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-04
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3. Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura
The most common hemoglobinopathies, viz, hemoglobins S and C, and α-and β-thalassemias, were investigated through the molecular screening of 116 subjects from the community of Saracura, comprising fugitive African slaves from farms of the municipality of Santarém, in the west of Pará State, Brazilian Amazon. The observed frequency of the HBB*S gene (0.9%
Genetics and Molecular Biology. Publicado em: 05/07/2012
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4. Saúde pública no primeiro e terceiro mundos : desafios e perspectivas / Public health in the first and third worlds: challenges and perspectives
O direito universal à saúde está bem estabelecido, mas entre declarações de propósitos e a realidade existem abismos difíceis de transpor. O desenvolvimento científico-tecnológico desigual tem acentuado as distâncias entre os padrões de vida, e, portanto, o estado sanitário de populações do Primeiro e Terceiro Mundos. Um dos segmentos mais impo
Publicado em: 2010
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5. Mecanismos reguladores da sintese de globinas : avaliação funcional da região R/PYR e analise da expressão genica diferencial na persistencia hereditaria de hemoglobina fetal e na delta-beta talassemia / Regulatory mechanisms of globin syntheis : functional evaluation of R/PYR region and differential gene expression analysis in hereditary persistence of etal hemoglobin and delta-beta thalassemia
The genetic mechanisms underlying the continued expression of the ?-globin genes during the adult stage in deletional hereditary persistence of fetal hemoglobin (HPFH) and ??-thalassemias are not completely understood. For deletional HPFH, three main hypotheses were proposed to explain the relationship between these deletions and the non-suppression of ? -ge
Publicado em: 2006
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6. Fatores geneticos moduladores da gravidade clinica nas Beta-talassemias : o exemplo da proteina AHSP (Alpha Hemoglobin Stabilizing Protein)
Alpha-hemoglobin stabilizing protein (AHSP) is an erythroid-specific molecular chaperone that binds the cx-chains of hemoglobin, preventing their precipitation and deleterious effects. Loss of AHSP exacerbates a-globin precipitation and anemia in a murine model for p-thalassemia. In vitro, recombinant AHSP inhibits the production of reactive oxygen species (
Publicado em: 2006
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7. PESQUISA DE HEMOGLOBINOPATIAS E TALASSEMIAS EM PACIENTES PORTADORES DE LÚPUS ERITEMATOSO SISTÊMICO.
15 Systemic Lupus Erythematosus is a quintessential multigenic and multifactorial disease, with remarkable clinical and pathogenic complexities. The causes of the SLE total are not known, but it knows that ambient and genetic factors are involved. The observed clinical manifestations in patients to take hold of the SLE are diversified as fatigue, indispositi
Publicado em: 2005
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8. Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including thalassemias, is growing in importance, particularly because
Revista Brasileira de Hematologia e Hemoterapia. Publicado em: 2003-06
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9. A mouse model for beta 0-thalassemia.
We have used a "plug and socket" targeting technique to generate a mouse model of beta 0-thalassemia in which both the b1 and b2 adult globin genes have been deleted. Mice homozygous for this deletion (Hbbth-3/Hbbth-3) die perinatally, similar to the most severe form of Cooley anemia in humans. Mice heterozygous for the deletion appear normal, but their hema
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10. Human embryonic zeta-globin chains in adult patients with alpha-thalassemias.
Human embryonic zeta-globin chains are alpha-globin-like chains that are normally present during the first three months of gestation. In this investigation, zeta-globin chains measured by a specific and sensitive radioimmunoassay and by an electrophoretic technique were found to be present in all 7 patients studied with hereditary Hb H disease, and in 8 out
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11. Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia.
We have used restriction endonuclease mapping of cell DNA to investigate the structure of the beta-globin gene in beta-thalassemias. Among 17 individuals with beta +- and beta 0-thalassemia, we observed three patients of Indian origin with beta 0-thalassemia whose DNA revealed a consistent mapping abnormality. In one beta allele in each diploid cell, 0.6 kil
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12. Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene.
Thalassemias are hereditary anemias caused by mutations that disturb the normal 1:1 balance of alpha- and beta-globin chains that form hemoglobin. We have disrupted the major adult beta-globin gene (b1) in mouse embryonic stem cells by using homologous recombination to insert selectable sequences into the gene. Mice homozygous for this insertional disruption